Nhs England
November 6
14:47
2024
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The document covers screening and diagnostic protocols and initial clinical referral guidelines for the 6 inherited metabolic diseases:
- phenylketonuria (PKU)
- medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- maple syrup urine disease (MSUD)
- isovaleric acidaemia (IVA)
- glutaric aciduria type 1 (GA1)
- homocystinuria (pyridoxine unresponsive) (HCU)